The Use of Multiplex LigationDependent Probe Amplification Technology for Genetic Analysis of the Entire PKD1 Gene and PKD2 Gene

Genetic screening of the PKD1 and PKD2 genes using the MLPA method may decrease cost and labor. Indeed, the MLPA method was especially useful in cases exhibiting juvenile onset and rapid kidney enlargement. Case 1 had greater kidney capacity than the other cases, and dialysis was introduced at a younger age. There were two gene variations in PKD1, and the cyst in this case grew quite rapidly. Because the kidney volume was small in Case 2, the patient was not eligible for tolvaptan therapy according to guidelines in Japan. By using this method, it may be possible to predict ADPKD onset and the efficacy of tolvaptan, which is expected to suppress cyst growth, during the early stages of the disease. The use of multiplex ligation-dependent probe amplification technology for genetic analysis of the entire PKD1 gene and PKD2 gene.